Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
Publication/Presentation Date
1-1-2007
Abstract
Neonatal Marfan syndrome (MFS) is a severe form of classic MFS caused by mutations in a specific region of the fibrillin 1 gene (FBN1). We report a case of an infant with neonatal MFS who presented with flexion contractures in utero and severe skeletal and cardiovascular manifestations at birth. A novel de novo missense mutation in exon 26 of FBN1 was demonstrated. Because of potential new therapies, it is increasingly important to recognize neonatal MFS in utero as well as shortly after birth to initiate the appropriate diagnostic work-up and management.
Volume
2
Issue
5
First Page
342
Last Page
346
ISSN
1747-0803
Published In/Presented At
Sutherell, J., Zarate, Y., Tinkle, B. T., Markham, L. W., Cripe, L. H., Hyland, J. C., Witte, D., Hopkin, R. J., & Hinton, R. B. (2007). Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenital heart disease, 2(5), 342–346. https://doi.org/10.1111/j.1747-0803.2007.00123.x
Disciplines
Medicine and Health Sciences
PubMedID
18377451
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article